MCID: HMN031
MIFTS: 36

Human Venous Malformation

Aliases & Classifications for Human Venous Malformation

MalaCards integrated aliases for Human Venous Malformation:

Name: Human Venous Malformation 38 55
Venous Malformation 29 6
Venous Malformations 37
Malformation Venous 55

External Ids:

KEGG 37 H00531

Summaries for Human Venous Malformation

MalaCards based summary : Human Venous Malformation, also known as venous malformation, is related to glomuvenous malformations and venous malformations, multiple cutaneous and mucosal. An important gene associated with Human Venous Malformation is GLMN (Glomulin, FKBP Associated Protein). Affiliated tissues include Endothelium, endothelial and smooth muscle, and related phenotypes are cardiovascular system and embryo

Related Diseases for Human Venous Malformation

Diseases related to Human Venous Malformation via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 117)
# Related Disease Score Top Affiliating Genes
1 glomuvenous malformations 33.2 GLMN KRIT1
2 venous malformations, multiple cutaneous and mucosal 33.1 CCM2 GLMN KRIT1 PDCD10 TEK
3 cerebral cavernous malformations 32.0 CCM2 KRIT1 PDCD10
4 hemangioma 29.7 CCM2 KRIT1 TEK
5 glomangioma 29.6 GLMN TEK
6 klippel-trenaunay-weber syndrome 29.5 CCM2 GLMN KRIT1 PDCD10
7 cavernous hemangioma 29.2 CCM2 KRIT1 PDCD10
8 cavernous malformation 29.0 CCM2 KRIT1 PDCD10
9 cerebral cavernous malformations 3 29.0 CCM2 KRIT1 PDCD10
10 vascular malformation, primary intraosseous 11.6
11 genuine diffuse phlebectasia 11.0
12 orbital varix 11.0
13 blue rubber bleb nevus 10.1
14 thrombosis 10.0
15 hereditary hemorrhagic telangiectasia 10.0
16 vascular hemostatic disease 9.9 CCM2 KRIT1
17 macroglossia 9.9
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
19 arteriovenous malformation 9.9
20 lymphatic malformations 9.9
21 weber syndrome 9.9
22 cardiovascular organ benign neoplasm 9.9 GLMN TEK
23 thrombophilia due to thrombin defect 9.8
24 hydrocephalus 9.8
25 sensorineural hearing loss 9.8
26 portal hypertension 9.8
27 enophthalmos 9.8
28 angiokeratoma 9.8
29 plexiform neurofibroma 9.8
30 cowden disease 9.8
31 neurofibroma 9.8
32 pulmonary arteriovenous malformation 9.8
33 verrucous hemangioma 9.8
34 benign perivascular tumor 9.8 GLMN TEK
35 central nervous system benign neoplasm 9.7 CCM2 KRIT1 PDCD10
36 nervous system benign neoplasm 9.7 CCM2 KRIT1 PDCD10
37 cerebral cavernous malformations 2 9.7 CCM2 KRIT1 PDCD10
38 adams-oliver syndrome 1 9.7
39 progressive familial heart block, type ia 9.7
40 carpal tunnel syndrome 9.7
41 hemangioma-thrombocytopenia syndrome 9.7
42 macular dystrophy, dominant cystoid 9.7
43 sturge-weber syndrome 9.7
44 varicose veins 9.7
45 charge syndrome 9.7
46 baller-gerold syndrome 9.7
47 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.7
48 moyamoya disease 1 9.7
49 oliver syndrome 9.7
50 pulmonary arteriovenous fistulas 9.7

Graphical network of the top 20 diseases related to Human Venous Malformation:



Diseases related to Human Venous Malformation

Symptoms & Phenotypes for Human Venous Malformation

MGI Mouse Phenotypes related to Human Venous Malformation:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.77 CCM2 GLMN KRIT1 PDCD10 TEK
2 embryo MP:0005380 9.72 CCM2 GLMN KRIT1 PDCD10 TEK
3 growth/size/body region MP:0005378 9.65 CCM2 GLMN KRIT1 PDCD10 TEK
4 muscle MP:0005369 9.46 CCM2 KRIT1 PDCD10 TEK
5 nervous system MP:0003631 9.35 CCM2 GLMN KRIT1 PDCD10 TEK
6 vision/eye MP:0005391 8.92 CCM2 KRIT1 PDCD10 TEK

Drugs & Therapeutics for Human Venous Malformation

Search Clinical Trials , NIH Clinical Center for Human Venous Malformation

Genetic Tests for Human Venous Malformation

Genetic tests related to Human Venous Malformation:

# Genetic test Affiliating Genes
1 Venous Malformation 29

Anatomical Context for Human Venous Malformation

MalaCards organs/tissues related to Human Venous Malformation:

41
Endothelial, Smooth Muscle, Tongue, Bone, Heart, Brain, Colon
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Human Venous Malformation:
# Tissue Anatomical CompartmentCell Relevance
1 Endothelium Veins Vascular Smooth Muscle Cells Affected by disease, potential therapeutic candidate

Publications for Human Venous Malformation

Articles related to Human Venous Malformation:

(show top 50) (show all 318)
# Title Authors Year
1
Rectal Venous Malformation Treated by Superior Rectal Artery Embolization. ( 30167774 )
2019
2
Parapharyngeal Space Venous Malformation: An Imaging Mimic of Pleomorphic Adenoma. ( 30409847 )
2018
3
Intravascularly disseminated cutaneous angiosarcoma arising in a non-irradiated lymphatic-venous malformation mimicking intravascular lymphoma. ( 30396868 )
2018
4
Orbital lymphatic-venous malformation with concomitant spontaneous orbital arteriovenous fistula: case report. ( 29171798 )
2018
5
Verrucous hemangioma (also known as verrucous venous malformation): A vascular anomaly frequently misdiagnosed as a lymphatic malformation. ( 30216519 )
2018
6
Concentration-dependent effects of rapamycin on proliferation, migration and apoptosis of endothelial cells in human venous malformation. ( 30542410 )
2018
7
Management of Concomitant Moyamoya Disease, Arterial Venous Malformation, and Intracranial Aneurysm: Case Illustration, Literature Review, and Management Algorithm. ( 30107248 )
2018
8
Low-Flow Orbital Venous Malformation Masquerading as Rhabdomyosarcoma. ( 30289825 )
2018
9
Sirolimus for the treatment of "verrucous" venous malformation: are we missing the lymphatic malformation component? ( 30240774 )
2018
10
A rare case of a venous malformation of the clitoris. ( 29566883 )
2018
11
Balloon and Coil Occlusion of a Superior Sagittal Sinus Cortical Vein Facilitates Percutaneous Supraorbital Venous Malformation Sclerotherapy. ( 29600422 )
2018
12
Venous Malformation of the Esophagus. ( 29626460 )
2018
13
Intraosseous venous malformation of the zygomatico-orbital complex. Case report and literature review with focus on confusions in vascular lesion terms. ( 29651653 )
2018
14
Free Omental Flap for Tissue Defect Coverage after Resection of Complicated Venous Malformation in the Area of the Knee. ( 29772322 )
2018
15
A xenograft model for venous malformation. ( 29786783 )
2018
16
A Venous Malformation in the Vastus Lateralis: Our Experience with Cryotherapy. ( 29886207 )
2018
17
Reply to letter to the editor commenting on the article "Intraosseous venous malformation of the zygomatico-orbital complex. Case report and literature review with focus on confusions in vascular lesion terms". ( 29911281 )
2018
18
Treatment of cervicofacial lymphatico-venous malformation with vascularized lymph node transfer (VLNT). ( 29965928 )
2018
19
Robotic partial cystectomy for venous malformation of the bladder. ( 29998065 )
2018
20
Sirolimus for treatment of verrucous venous malformation: A retrospective cohort study. ( 30048660 )
2018
21
Development of pseudo-subarachnoid hemorrhage secondary to hypoxic-ischemic injury due to bleeding pulmonary arterio-venous malformation. ( 30266082 )
2018
22
Percutaneous sclerotherapy of para-orbital and orbital venous malformation: A single center, case series. ( 30336759 )
2018
23
Exsanguination From an Ulcerated, Atypical, Superficial Venous Malformation. ( 30359337 )
2018
24
Eruption of a venous malformation through an iliac bone harvesting site after trauma. ( 30466241 )
2018
25
A case of venous malformation of the mandible. ( 30484192 )
2018
26
Efficient isolation and culture of endothelial cells from venous malformation using the Rho-associated protein kinase inhibitor Y27632. ( 28554252 )
2018
27
Large rectal venous malformation: atypical endoscopic appearance and unusual diagnosis. ( 29102731 )
2018
28
Recurrent hematuria in renal angio-venous malformation, delay diagnosis and endovascular treatment, a case report. ( 29134176 )
2018
29
Bleomycin-induced flagellate erythema after venous malformation sclerosis-Case report and brief review. ( 29159988 )
2018
30
Treatment of a Large Pharyngeal Venous Malformation using Transoral Sclerotherapy. ( 29176297 )
2018
31
Internal venous anomalies in patients with a genital venous malformation. ( 29231253 )
2018
32
Bevacizumab and Bleomycin combination for treatment of orbital lymphatico-venous malformation recalcitrant to sclerosing therapy alone. ( 29369465 )
2018
33
Imaging Findings of Venous Malformation in Neck. ( 29399571 )
2018
34
Endoscopic Approach for Excision of Venous Malformation of the Orbital Apex. ( 29419595 )
2018
35
Transgenic Expression of A Venous Malformation Related Mutation, TIE2-R849W, Significantly Induces Multiple Malformations of Zebrafish. ( 29511374 )
2018
36
Cavernous venous malformation (cavernous hemangioma) of the orbit: Current concepts and a review of the literature. ( 28131871 )
2017
37
Kimura's Disease without Peripheral Eosinophilia: An Unusual and Challenging Case Simulating Venous Malformation on Imaging Studies-Case Report and Review of literature. ( 28764210 )
2017
38
Venous malformation associated with type 1 neurofibromatosis: a case report. ( 25825162 )
2017
39
Venous Malformation and Localized Intravascular Coagulopathy in Children. ( 27089461 )
2017
40
Intramuscular Venous Malformation in an Infant Masquerading as Recurrent Gonarthritis. ( 27222363 )
2017
41
Venous malformation with multiple phleboliths: 
A case report. ( 27822573 )
2017
42
Pulmonary Arterio-Venous Malformation (PAVM): A Rare Case Report. ( 28260780 )
2017
43
Massive Nasal Arterio-Venous Malformation (AVM) Excision and Reconstruction with Expanded Forehead Flap: A Case Report. ( 28289622 )
2017
44
Progression in size of an arterio-venous malformation. ( 28484532 )
2017
45
Transcanal Endoscopic Ear Surgery for Excision of a Facial Nerve Venous Malformation With Interposition Nerve Grafting: A Case Report. ( 28498268 )
2017
46
Management of Orbital and Periorbital Venous Malformation. ( 28611988 )
2017
47
Pulmonary thromboendarterectomy in the setting of a mediastinal venous malformation with a congenitally absent left subclavian vein. ( 28680585 )
2017
48
Intralesional Lidocaine Anesthesia: A Novel Facilitated Anesthesia Technique for Ethanol Sclerotherapy of Venous Malformation. ( 28692519 )
2017
49
Pingyangmycin Pretreatment Influences the Biological Behavior of Ocular Venous Malformation and Relates with Galectin-3 Expression. ( 28748853 )
2017
50
Review of the endothelial pathogenic mechanism of TIE2-related venous malformation. ( 28818232 )
2017

Variations for Human Venous Malformation

ClinVar genetic disease variations for Human Venous Malformation:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ELN NM_000501.3(ELN): c.1150+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503030 GRCh37 Chromosome 7, 73469100: 73469100
2 ELN NM_000501.3(ELN): c.1150+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs727503030 GRCh38 Chromosome 7, 74054770: 74054770
3 GLMN NM_053274.2(GLMN): c.108C> A (p.Cys36Ter) single nucleotide variant Pathogenic rs770780171 GRCh37 Chromosome 1, 92763018: 92763018
4 GLMN NM_053274.2(GLMN): c.108C> A (p.Cys36Ter) single nucleotide variant Pathogenic rs770780171 GRCh38 Chromosome 1, 92297461: 92297461
5 COL5A1 NM_000093.4(COL5A1): c.3760C> T (p.Pro1254Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 137704466: 137704466
6 COL5A1 NM_000093.4(COL5A1): c.3760C> T (p.Pro1254Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 134812620: 134812620

Expression for Human Venous Malformation

Search GEO for disease gene expression data for Human Venous Malformation.

Pathways for Human Venous Malformation

GO Terms for Human Venous Malformation

Cellular components related to Human Venous Malformation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell junction GO:0005911 8.62 KRIT1 TEK

Biological processes related to Human Venous Malformation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of angiogenesis GO:0016525 9.32 KRIT1 TEK
2 vasculogenesis GO:0001570 9.26 CCM2 GLMN
3 negative regulation of endothelial cell apoptotic process GO:2000352 9.16 KRIT1 TEK
4 angiogenesis GO:0001525 9.13 KRIT1 PDCD10 TEK
5 stress fiber assembly GO:0043149 8.62 ELN PDCD10

Sources for Human Venous Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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